rs17136053
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016333.4(SRRM2):c.2648C>A(p.Ser883Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S883C) has been classified as Benign.
Frequency
Consequence
NM_016333.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SRRM2 | NM_016333.4 | c.2648C>A | p.Ser883Tyr | missense_variant | 11/15 | ENST00000301740.13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SRRM2 | ENST00000301740.13 | c.2648C>A | p.Ser883Tyr | missense_variant | 11/15 | 1 | NM_016333.4 | P1 | |
SRRM2 | ENST00000576924.6 | c.2648C>A | p.Ser883Tyr | missense_variant | 11/15 | 1 | P1 | ||
SRRM2 | ENST00000571378.5 | c.2360C>A | p.Ser787Tyr | missense_variant | 10/10 | 1 | |||
SRRM2 | ENST00000575870.6 | c.*2034C>A | 3_prime_UTR_variant, NMD_transcript_variant | 10/10 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Cov.: 83
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at